Canonical Allele Identifier: CA350419200
Gene: ACADL HGNC NCBI

Linked Data

gnomAD v4: 2-210195328-T-C
MyVariant Identifiers: chr2:g.211060052T>C (hg19) chr2:g.210195328T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.210195328T>C , CM000664.2:g.210195328T>C GRCh38
NC_000002.11:g.211060052T>C , CM000664.1:g.211060052T>C GRCh37
NC_000002.10:g.210768297T>C NCBI36
NG_008002.1:g.35164A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000233710.4:c.995A>G MANE Select ENSP00000233710.3:p.His332Arg
ENST00000652584.1:n.1223A>G
ENST00000233710.3:c.995A>G ENSP00000233710.3:p.His332Arg
NM_001608.3:c.995A>G NP_001599.1:p.His332Arg
XM_005246517.3:c.932A>G XP_005246574.1:p.His311Arg
XM_005246517.4:c.932A>G XP_005246574.1:p.His311Arg
XM_017003955.1:c.572A>G XP_016859444.1:p.His191Arg
NM_001608.4:c.995A>G MANE Select NP_001599.1:p.His332Arg
Search 100 bp 5'
Search 100 bp 3'